The rich ethnolinguistic and sociocultural differences that exist in India offers a unique opportunity to study human diversity. With the whole genomes of 10,000 healthy and unrelated Indians from 83 populations, the GenomeIndia project captures the genetic diversity of one of the highly underrepresented populations in the global genomics landscape.

India, the most populous nation in the world with 1.44 billion people from over 4,600 distinct endogamous groups, represents an invaluable source of ethnolinguistic, sociocultural and genetic diversity. Deciphering the genetic makeup of human populations helps in understanding their ancestry, evolutionary history, admixture patterns, disease susceptibility and drug response. To this end, world over, genomics consortia have been established. Nevertheless, the global genomic landscape is predominantly Euro-centric1; although some projects have documented worldwide genetic diversity by discovering DNA sequence variation in several human populations, for example the 1000 Genomes project2, followed by others across the world, recent inclusions being at biobank scale3,4,5,6,7. Unfortunately, India has been severely underrepresented in these global studies. To address this lacuna, a few studies have been initiated to understand the human genetic diversity of Asia (GenomeAsia)8 and India (IndiGen and LASI-DAD)9,10.

India experienced several waves of migration11,12 with evidence of population expansion during the Paleolithic and Neolithic periods. The demographic history of India is also unique, with exposure to different environments and widespread admixture, followed by formation of numerous endogamous groups13. Many of the contemporary Indian populations have originated from a few founding groups and have maintained distinct identities through centuries of endogamy. These endogamous groups13,14, apart from sharing genetic similarities, possess unique variations, including distinct disease-causing mutations with amplified frequencies within specific groups.